Filtros de búsqueda

Lista de obras de Michael Nothnagel

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

artículo científico publicado en 2009

A 3' UTR transition within DEFB1 is associated with chronic and aggressive periodontitis

artículo científico publicado en 2009

A Genome-wide Association Study of Dupuytren Disease Reveals 17 Additional Variants Implicated in Fibrosis

artículo científico publicado en 2017

A case-only study of gene-environment interaction between genetic susceptibility variants in NOD2 and cigarette smoking in Crohn's disease aetiology.

artículo científico publicado en 2012

A genome-wide association study confirms APOE as the major gene influencing survival in long-lived individuals

article

A genome-wide association study confirms PNPLA3 and identifies TM6SF2 and MBOAT7 as risk loci for alcohol-related cirrhosis

artículo científico publicado en 2015

A genome-wide association study identifies GLT6D1 as a susceptibility locus for periodontitis

scientific journal article

A genome-wide association study reveals evidence of association with sarcoidosis at 6p12.1.

artículo científico publicado en 2011

A genome-wide linkage analysis in 181 German sarcoidosis families using clustered biallelic markers.

artículo científico publicado en 2010

A global analysis of Y-chromosomal haplotype diversity for 23 STR loci

artículo científico publicado en 2014

A novel sarcoidosis risk locus for Europeans on chromosome 11q13.1

artículo científico publicado en 2012

An evaluation of the genetic-matched pair study design using genome-wide SNP data from the European population

artículo científico publicado en 2009

Ancient DNA study reveals HLA susceptibility locus for leprosy in medieval Europeans.

artículo científico publicado en 2018

Approaches to the genetics of cardiovascular disease through genetic field work.

artículo científico publicado en 1998

Association between variants of PRDM1 and NDP52 and Crohn's disease, based on exome sequencing and functional studies

scientific article published on 25 April 2013

Association of inflammatory bowel disease risk loci with sarcoidosis, and its acute and chronic subphenotypes.

artículo científico publicado en 2010

Association of postprandial and fasting triglycerides with traits of the metabolic syndrome in the Metabolic Intervention Cohort Kiel.

artículo científico publicado en 2010

Association of toll-interacting protein gene polymorphisms with atopic dermatitis

artículo científico publicado en 2007

Association screen for atopic dermatitis candidate gene regions using microsatellite markers in pooled DNA samples

article

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation

artículo científico publicado en 2015

CDKN2BAS is associated with periodontitis in different European populations and is activated by bacterial infection.

artículo científico publicado en 2010

COX-2 is associated with periodontitis in Europeans

artículo científico publicado en 2010

Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling

artículo científico publicado en 2018

CoNCoS: copy number estimation in cancer with controlled support.

artículo científico publicado en 2015

Collaborative genetic mapping of 12 forensic short tandem repeat (STR) loci on the human X chromosome

artículo científico publicado en 2012

Combined analysis of genome-wide association studies for Crohn disease and psoriasis identifies seven shared susceptibility loci

scientific journal article

Common genetic risk variants of TLR2 are not associated with periodontitis in large European case-control populations

artículo científico publicado en 2012

Comparative assessment of the association information captured by SNP tagging

artículo científico publicado en 2007

Continent-wide decoupling of Y-chromosomal genetic variation from language and geography in native South Americans

artículo científico publicado en 2013

Correlation between genetic and geographic structure in Europe

artículo científico publicado en 2008

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

artículo científico publicado en 2015

Depletion of potential A2M risk haplotype for Alzheimer's disease in long-lived individuals

artículo científico publicado en 2010

Diagnosing fatty liver disease: a comparative evaluation of metabolic markers, phenotypes, genotypes and established biomarkers

artículo científico publicado en 2013

Distinct genetic variation and heterogeneity of the Iranian population

scientific article published on 24 September 2019

Efficacy assessment of SNP sets for genome-wide disease association studies

artículo científico publicado en 2007

Entropy as a measure for linkage disequilibrium over multilocus haplotype blocks.

artículo científico publicado en 2002

Evaluation of genome-wide loci of iron metabolism in hereditary hemochromatosis identifies PCSK7 as a host risk factor of liver cirrhosis

artículo científico publicado en 2014

Evaluation of potential effects of Plastin 3 overexpression and low-dose SMN-antisense oligonucleotides on putative biomarkers in spinal muscular atrophy mice

scientific article published in PLoS ONE

Exome sequencing utility in defining the genetic landscape of hearing loss and novel-gene discovery in Iran

artículo científico publicado en 2021

Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy

artículo científico publicado en 2018

Family-Based Benchmarking of Copy Number Variation Detection Software

artículo científico publicado en 2015

Female-specific association of C-C chemokine receptor 5 gene polymorphisms with Löfgren's syndrome

artículo científico publicado en 2008

GABA(A) receptor- and GABA transporter polymorphisms and risk for essential tremor

artículo científico publicado en 2010

Genetic and functional identification of the likely causative variant for cholesterol gallstone disease at the ABCG5/8 lithogenic locus

artículo científico publicado en 2013

Genome-wide association analysis in primary sclerosing cholangitis

artículo científico publicado en 2009

Genome-wide association analysis in sarcoidosis and Crohn's disease unravels a common susceptibility locus on 10p12.2.

artículo científico publicado en 2008

Genome-wide association analysis reveals 12q13.3-q14.1 as new risk locus for sarcoidosis

scientific journal article

Genome-wide association study identifies ANXA11 as a new susceptibility locus for sarcoidosis

artículo científico publicado en 2008

Genome-wide search for novel human uORFs and N-terminal protein extensions using ribosomal footprinting

artículo científico publicado en 2012

Guideline-based and bioinformatic reassessment of lesion-associated gene and variant pathogenicity in focal human epilepsies

article

Haplotypes of IL-12Rβ1 impact on the clinical phenotype of hidradenitis suppurativa

artículo científico publicado en 2013

Heterozygous carriage of the alpha1-antitrypsin Pi*Z variant increases the risk to develop liver cirrhosis

scientific article published on 01 August 2018

Hypotheses in genome-wide association scans

scientific article published on 14 May 2008

Identification and characterization of two functional variants in the human longevity gene FOXO3.

artículo científico publicado en 2017

Identification of a shared genetic susceptibility locus for coronary heart disease and periodontitis

artículo científico publicado en 2009

Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing

artículo científico publicado en 2016

LINGO1 polymorphisms are associated with essential tremor in Europeans

artículo científico publicado en 2010

Loci From a Genome-Wide Analysis of Bilirubin Levels Are Associated With Gallstone Risk and Composition

article

Meta-Analysis of Genome-Wide Association Studies and Network Analysis-Based Integration with Gene Expression Data Identify New Suggestive Loci and Unravel a Wnt-Centric Network Associated with Dupuytren's Disease

artículo científico publicado en 2016

Meta-analysis identifies novel risk loci and yields systematic insights into the biology of male-pattern baldness

artículo científico publicado en 2017

Metabolic signature of electrosurgical liver dissection

artículo científico publicado en 2013

Missense variants in NOX1 and p22phox in a case of very-early-onset inflammatory bowel disease are functionally linked to NOD2

scientific article published on 01 February 2019

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

artículo científico publicado en 2013

NOD1 gene polymorphisms in relation to aggressive periodontitis

artículo científico publicado en 2009

Pathway-induced allelic spectra of diseases in the presence of strong genetic effects

artículo científico publicado en 2018

Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics.

artículo científico publicado en 2018

Polymorphisms in NACHT-LRR (NLR) genes in atopic dermatitis

article

Polymorphisms in the glial glutamate transporter SLC1A2 are associated with essential tremor

scientific journal article

Polymorphisms in the interleukin-1 (IL1) gene cluster are not associated with aggressive periodontitis in a large Caucasian population

article

Postprandial plasma adiponectin decreases after glucose and high fat meal and is independently associated with postprandial triacylglycerols but not with -- 11388 promoter polymorphism

artículo científico publicado en 2007

Potentials and limits of pairwise kinship analysis using autosomal short tandem repeat loci

scientific article published on 10 February 2010

Prognostic relevance of gastric cancer staging by endoscopic ultrasound

artículo científico publicado en 2012

Publisher Correction: Identification and characterization of two functional variants in the human longevity gene FOXO3.

artículo científico publicado en 2018

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

article

Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes

artículo científico publicado en 2015

Revisiting the male genetic landscape of China: a multi-center study of almost 38,000 Y-STR haplotypes

artículo científico publicado en 2017

Role of NOD2/CARD15 in coronary heart disease

artículo científico publicado en 2007

Role of the toll-like receptor 4 polymorphism Asp299Gly in longevity and myocardial infarction in German men

scientific article published on 07 April 2007

SFRS10—A Splicing Factor Gene Reduced in Human Obesity?

article

Schizophrenia risk polymorphisms in the TCF4 gene interact with smoking in the modulation of auditory sensory gating

artículo científico publicado en 2012

Securing the use of existing sample collections for future human genetic research

artículo científico publicado en 2017

Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility

artículo científico publicado en 2008

Serum metabolomic profiling highlights pathways associated with liver fat content in a general population sample

artículo científico publicado en 2017

Shannon's equivocation for forensic Y-STR marker selection.

artículo científico publicado en 2015

Statistical gene mapping of traits in humans--hypertension as a complex trait: is it amenable to genetic analysis?

artículo científico publicado en 2002

Statistical inference of allelic imbalance from transcriptome data

artículo científico publicado en 2011

Technology-specific error signatures in the 1000 Genomes Project data

artículo científico publicado en 2011

The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?

artículo científico publicado en 2016

The Wegener's granulomatosis quantitative trait locus on chromosome 6p21.3 as characterised by tagSNP genotyping

artículo científico publicado en 2007

The association of fatty acid-binding protein 2 A54T polymorphism with postprandial lipemia depends on promoter variability

artículo científico publicado en 2007

The effect of FABP2 promoter haplotype on response to a diet with medium-chain triacylglycerols ⬇️

artículo científico publicado el 24 de enero de 2012

The exhaustive genomic scan approach, with an application to rare-variant association analysis

artículo científico publicado en 2020

The minor allele of the PPARgamma2 pro12Ala polymorphism is associated with lower postprandial TAG and insulin levels in non-obese healthy men.

artículo científico publicado en 2007

Towards a fine-scale picture of European genetic diversity

scientific article published on 01 April 2020

True colors: A literature review on the spatial distribution of eye and hair pigmentation

scientific article published on 02 January 2019

Unsupported claim of significant discrimination between monozygotic twins from multiple pairs based on three age-related DNA methylation markers

scientific article published on 09 January 2019

Validation of reported genetic risk factors for periodontitis in a large-scale replication study.

artículo científico publicado en 2013

Variation in genes of the epidermal differentiation complex in German atopic dermatitis patients.

artículo científico publicado en 2009

Wnt signaling and Dupuytren's disease

artículo científico publicado en 2011

X chromosomal variation is associated with slow progression to AIDS in HIV-1-infected women

artículo científico publicado en 2009

s-ICAM-1 and s-VCAM-1 in healthy men are strongly associated with traits of the metabolic syndrome, becoming evident in the postprandial response to a lipid-rich meal.

artículo científico publicado en 2008

Dominio Público Uruguay está sostenido por:

Acerca de Dominio Público Uruguay

Ayuda